Selective IgA deficiency with 18q+ and 18q-- karyotypic anomalies.
A case is described of selective immunoglobulin A deficiency in association with an 18q+ anomaly, apparently the result of a break at 18q23 and a de novo translocation. The presentation is compared with the phenotypic and immunological features in an IgA deficient 18q-- patient. The findings in these two patients suggest that gene(s) concerned with regulation of IgA synthesis are located on the distal long arm of chromosome 18 between 18q23 and qter.
D002874:Chromosome Mapping; D002902:Chromosomes, Human, 16-18 / Q000648:ultrastructure*; D004392:Dwarfism / Q000235:genetics; D004406:Dysgammaglobulinemia / Q000235:genetics*; D005802:Genes, MHC Class II; D006801:Humans; D017098:IgA Deficiency; D007070:Immunoglobulin A / Q000235:genetics*; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D013577:Syndrome; D014178:Translocation, Genetic
D007070:Immunoglobulin A